SCN1A Variant Database

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Published Statistics

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Overview of published SCN1A mutations (# patients)

Epilepsy syndrome

Severe

Other

Mild

SMEI, SMEB, Dravet syndromeICEGTC, SIGEI, SIMFE, MAE, MAE&GEFS+IS, LGS, CGE, CFE, SGEGEFS+, FS+, PE&FS+, TLE&FSFHM, PSTotal
Point Mutations
translation initiation mutation 1 1
splice donor mutation 42 1 1 1 45
splice acceptor mutation 23 23
silent mutation 2 2
nonsense mutation 141 141
missense mutation 253 14 9 28 7 311
in-frame deletion mutation 14 14
frameshift mutation 121 3 1 0 125
complex mutation 1 1 2
Total5981911297664
Genomic rearrangments
translocation 1 1
partial/whole gene duplication mutation 2 1 3
partial/whole gene deletion mutation 42 42
partial/whole gene amplification mutation 1 1
Total46010047
Total SCN1A mutations 6441912297711

Legend: CFE: cryptogenic focal epilepsy; CGE: cryptogenic generalized epilepsy; FHM: familial hemiplegic migraine; FS: febrile seizures; FS+: febrile seizures plus; GEFS+: generalized epilepsy with febrile seizures plus; ICEGTC: intractable childhood epilepsy with generalized tonic-clonic seizures; IS: infantile spasms; LGS: Lennox-Gastaut syndrome; MAE: myoclonic-astatic epilepsy; PE: partial epilepsy; PS: Panayiotopoulos syndrome; SIGEI: severe idiopathic generalized epilepsy of infancy; SIMFE: severe infantile multifocal epilepsy; SMEI: severe myoclonic epilepsy of infancy; SMEB: borderline SMEI; TLE: temporal lobe epilepsy.

last updated  22-Jun-11

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